Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.A1727HfsX26 Ala1727HisfsTer26 (p.A1708HfsX26 Ala1708HisfsTer26 without 19-amino-acid signal peptide) found as compound heterozygote with G2375R(G2356R)
| Title : Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation - Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| Author(s) : Vasudevan P , Powell C , Nicholas AK , Scudamore I , Greening J , Park SM , Schoenmakers N |
| Ref : Endocrinol Diabetes Metab Case Rep , 2017 : , 2017 |
| Abstract : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| ESTHER : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| PubMedSearch : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| PubMedID: 28620499 |
| Gene_locus related to this paper: human-TG |